School of Environmental Systems Engineering

Staff research profiles

Dr Agi Gedeon

Manager, Western Australian Integrated Marine Observing System (WAIMOS)
School of Environmental Systems Engineering

Contact details
Address
School of Environmental Systems Engineering
The University of Western Australia (M470)
35 Stirling Highway
CRAWLEY WA 6009
Australia
Phone
6488 2022
Fax
6488 1015
Email
agi.gedeon@uwa.edu.au
Key research
Publications
Publications of Agi Gedeon from 1996 onwards (nb. 39 additional publications precede these from 1985 to 1994 inclusive):


40.Bione, S., D’Adamo, P., Maestrini, E., Gedeon, A.K., Bolhuis, P.A. and Toniolo, D. (1996).
A novel X-linked gene, G4.5, is responsible for Barth syndrome.
Nature Genetics 12(4): 385-389.

41.Gecz, J., Gedeon, A.K., Sutherland, G.R., Mulley, J.C. (1996).
Identification of the gene FMR2, associated with FRAXE mental retardation.
Nature Genetics 13(1): 105-108.

42.Gedeon, A.K., Kozman, H.M., Robinson, H., Pilia, G., Schlessinger, D., Turner, G. and Mulley, J.C. (1996).
Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann syndrome.
Am. J. Med. Genet. 64(1): 63-68.

43.Gedeon, A.K., Haan, E. and Mulley, J.C. (1996).
Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470).
Am. J. Med. Genet. 64(1): 78-79.

44.Gedeon, A.K., Turner, G. and Mulley, J.C. (1996).
Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585).
Am. J. Med. Genet. 64(1): 80-81.

45.Gedeon, A.K., Glass, I.A., Connor, J.M. and Mulley, J.C. (1996).
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation.
Am. J. Med. Genet. 64(1): 121-124.

46.Gedeon, A.K., Donnelly, A., Kerr, B., Turner, G. and Mulley, J.C. (1996).
How many X-linked genes for non-specific mental retardation (MRX) are there?
Am. J. Med. Genet. 64(1): 158-162. REVIEW.

47.D’Adamo, P., Fassone, L., Gedeon, A., Janssen, E.A.M., Bione, S., Bolhuis, P.A., Barth, P.G., Wilson, M., Haan, E., Orstavik, K.H., Patton, M.A., Green, A.J., Zammarchi, E., Donati, M.A., and Toniolo, D. (1997 Oct).
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
Am. J. Hum. Genet. 61(4):862-867.

48.Gedeon, A.K., Oley, C., Nelson, J., Turner, G., and Mulley, J.C. (1998).
Gene localisation for oral-facial-digital syndrome Type I (OFD1:MIM311200) proximal to DXS7108.
Am. J. Med. Genet. 82(4):352-354.

49.D’Adamo, P., Menegon, A., Lo Nigro, C., Grasso, M., Gulisano, M., Tamanini, F., Bienvenu, T., Gedeon, A.K., Oostra, B., Wu, S., Tandon, A., Valtorta, F., Balch, W., Chelly, J., Toniolo, D. (1998 Jun).
Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
Nature Genetics 19(2):134-139. Erratum in Nat Genet 19(3):303.

50.Orstavik, K.H., Orstavik, R.E., Naumova, A.K., D’Adamo, P., Gedeon, A.K., Bolhuis, P.A., Barth, P.G., and Toniolo, D. (1998 Nov).
X chromosome inactivation in carriers of Barth syndrome.
Am. J. Hum. Genet. 63(5):1457-1463.

51.Gedeon A.K, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gecz J. (1999 Aug).
Identification of the SEDL gene for X-linked spondyloepiphyseal dysplasia tarda (SEDL).
Nature Genetics 22(4):400-404.

52. Gecz J., Hillman, M.A., Gedeon, A.K., Cox, T.C., Baker, E., Mulley, J.C. (2000 Oct)
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.
Genomics 69(2):242-251.

53. Gedeon, A.K., Tiller, G.E., LeMerrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, IA., Savarirayan, R., Cole, WG., Rimoin, D.L., Kousseff, B.G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J.C. (2001 Jun)
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Am J Hum Genet 68(6):1386-1397. Epub 2001 May 08.

54.Tiller, G.E., Hannig, V.L., Dozier, D., Carrel, L., Trevarthen, K.C., Wilcox, W.R., Mundlos, S., Haines, J.L., Gedeon, A.K., Gecz, J. (2001 Jun)
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
Am J Hum Genet 68(6):1398-1407. Epub 2001 Apr 26.

55.Lossi, A-M., Laugier-Lanfossi, F., Depetris, D., Gecz, J., Gedeon, A.K., Kooy, F., Schwartz, C., Mattei, M-G., Croquette, M-F., Villard, L. (2002 Feb)
Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X-autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.
J Med Genet 39(2):113-7.

56.Stromme, P., Mangelsdorf, M.E., Shaw, M.A., Lower, K.M., Lewis, S.M., Bruyere, H., Lutcherath, V., Gedeon, A.K., Wallace, R.H., Scheffer, I.E., Turner, G., Partington, M., Frints, S.G., Fryns, J.P., Sutherland, G.R., Mulley, J., Gecz, J. (2002 Apr)
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
Nat Genet 30(4):441-5. Epub 2002 Mar 11.

57.Lower, K.M., Turner, G., Kerr, B.A., Mathews, K.D., Shaw, M.A., Gedeon, A.K., Schelley, S., Hoyme, H.E., White, S.M., Delatycki, M.B., Lampe, A.K., Clayton-Smith, J., Stewart, H., van Ravenswaay, C.M., de Vries, B.B., Cox, B., Grompe, M., Ross, S., Thomas, P., Mulley, J., Gecz, J. (2002 Dec)
Mutations in PHF6 are associated with Borjeson-Forssman-Lehmann syndrome.
Nat Genet 32(4):661-5. Epub 2002 Nov 04.

58.Davis, M.R., Haan, E., Jungbluth, H., Sewry, C., North, K., Muntoni, F., Kuntzer, T., Lamont, P., Bankier, A., Tomlinson, P., Sanchez, A., Walsh, P., Nagaraian, L., Oley, C., Colley, A., Gedeon, A.K., Quinlivan, R., Dixon, J., James, D., Muller, C.R., Laing, N.G. (2003 Feb)
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Neuromuscul Disord 13(2):151-7.

59.Turner, G., Gedeon, A.K., Kerr, B., Bennett, R., Mulley, J., Partington, M. (2003 Mar)
Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap and difficult adult behaviour maps to Xp22.
Am J Med Genet 117A(3):245-50.

60.Gedeon, A.K., Nelson, J., Gecz, J., Mulley, J. (2003 Aug)
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.
Am J Med Genet 120A(4):509-17.

61.Van Werkhoven M.A., Thorburn D.R., Gedeon, A.K., Pitt J.J. (2006 Oct)
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.
J Lipid Res 47(10):2346-51. Epub 2006 Jul 27.



INVITED CHAPTERS

Gedeon, A.K. and Gecz J (2000) SEDL. In Creighton, T.E. (Ed.) Encyclopedia of Molecular Medicine. Wiley 2001
Research profile
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